家族性低钙尿性高钙血症 3 型：错义突变。
Familial hypocalciuric hypercalcaemia type 3: missense mutation.
机构信息
Internal Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Mississippi Center for Clincal and Translational Center, University of Mississippi Medical Center, Jackson, Mississippi, USA.
出版信息
BMJ Case Rep. 2020 Nov 9;13(11):e236631. doi: 10.1136/bcr-2020-236631.
A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low urinary calcium, which was believed to be secondary to vitamin D deficiency. A diagnosis of primary hyperparathyroidism was made. The patient underwent a four-gland parathyroid exploration surgery in which three of his parathyroid glands were removed. The pathology was consistent with benign parathyroid tissue. Post surgery, the patient had persistently elevated calcium levels. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcaemia, respectively. Genetic analysis of familial hypocalciuric hypercalcaemia (FHH) showed a p.arg15cys mutation in the gene, confirming the diagnosis of FHH type 3.
一位 45 岁男性因高钙血症被转至内分泌科就诊。血钙升高，维生素 D 水平低，甲状旁腺激素正常。双能 X 线吸收法扫描显示腰椎和股骨颈骨质疏松。24 小时尿液收集显示尿钙低，考虑为维生素 D 缺乏所致。诊断为原发性甲状旁腺功能亢进症。患者接受了四腺体甲状旁腺探查手术，切除了三个甲状旁腺。病理结果符合良性甲状旁腺组织。术后，患者血钙持续升高。随后，他开始分别使用双膦酸盐和西那卡塞治疗骨质疏松症和高钙血症。家族性低钙血症性高钙血症（FHH）的基因分析显示 基因中的 p.arg15cys 突变，确诊为 FHH 型 3。
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